Hyperekplexia-epilepsy syndrome
- Type
- Disease
- Group
- Disorder
- Inheritance
- X-linked recessive
- Age of onset
- Neonatal
- Status
- active
A rare, X-linked, syndromic intellectual disability disease characterized by neonatal hypertonia which evolves to hypotonia and an exaggerated startle response (to sudden visual, auditory or tactile stimuli), followed by the development of early-onset, frequently refractory, tonic or myoclonic seizures. Progressive epileptic encephalopathy, intellectual disability, and psychomotor development arrest, with subsequent decline, may be additionally associated.
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Hyperekplexia-epilepsy syndrome | |
| fr | Syndrome d'hyperexplexie-épilepsie | |
| de | Hyperekplexie - Epilepsie | |
| es | Síndrome de hiperekplexia-epilepsia | Síndrome de hiperecplexia-epilepsia · Síndrome de hiperplexia-epilepsia |
| it | Sindrome da iperecplessia ed epilessia | |
| nl | Hyperekplexie - epilepsie-syndroom | |
| pt | Síndrome de hiperecplexia-epilepsia | |
| pl | Hiperekpleksja - padaczka | |
| cs | Syndrom zahrnující hyperekplexii a epilepsii | |
| uk | Синдром гіперексплексії-епілепсії | |
| zh | 早期婴儿型癫痫性脑病8型 | |
| tr | Hiperekspleksi-epilepsi sendromu |
Definition in:
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 300607 | E | validated | |
| ICD-10 | G25.8 | NTBT | attributed | validated |
| MONDO | 0010375 | E | validated | |
| UMLS | C5191643 | E | validated |
E exact · NTBT this ORPHAcode is narrower than the target · BTNT broader than the target · ND not decided.
Classification
Preferential parent (Orphanet linearisation):
Parents in the classifications (3):
- ORPHA:306773Hyperekplexia
rare neurological diseases - ORPHA:183521Rare genetic movement disorder
rare genetic diseases - ORPHA:2076X-linked intellectual disability-epilepsy syndrome
rare genetic diseases; rare neurological diseases
No children.
Genes
1 direct| Gene | Association | Status | HGNC | Ensembl | OMIM | Locus | Name | Source of validation |
|---|---|---|---|---|---|---|---|---|
| ARHGEF9 | Disease-causing germline mutation(s) (loss of function) in | Assessed | HGNC:14561 | ENSG00000131089 | 300429 | Xq11.1 | Cdc42 guanine nucleotide exchange factor 9 | 20301437[PMID] |
Prevalence and incidence
2 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Cases/families | 4 cases | Worldwide | Case(s) | Validated | 30078784[PMID] | |
| Point prevalence | <1 / 1 000 000 | — | Worldwide | Class only | Validated | ORPHANET_30078784[PMID] |
Value is Orphadata's ValMoy: the mean estimate per 100 000 for prevalence and incidence, the number of cases or families for case reports.
HPO phenotypes
9 annotations · validated 2019-04-12| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Frequent (79-30%) | ||
| HP:0002376 | Developmental regression | |
| HP:0012018 | EEG with temporal focal spikes | |
| HP:0200134 | Epileptic encephalopathy | |
| HP:0002267 | Exaggerated startle response | |
| HP:0002384 | Focal impaired awareness seizure | |
| HP:0010818 | Generalized tonic seizure | |
| HP:0001276 | Hypertonia | |
| HP:0007333 | Hypoplasia of the frontal lobes | |
| Occasional (29-5%) | ||
| HP:0000243 | Trigonocephaly | |
Annotation source: 23153204[PMID]_21633362[PMID]_15215304[PMID]
Sources for this card
- Orphanet page: orpha.net/en/disease/detail/163985
- This record as JSON: /data/d/163985.json